This pedigree shows a genetic condition in a family. It is not sex linked, figure out if it is dominant or recessive. Wh

1. This pedigree shows a genetic condition in a family. It is not sex linked, figure out if it is dominant or recessive. Why? I II III

2. Pedigree Word Problem On your first day interning in the office of a human geneticist, a man with purple ears walks in. You questioned the man and wrote down the following family history. The man's mother and one of his sisters also had purple ears, but his father, his brother, and two other sisters had normal ears. The man and his normal-eared wife had seven children, including four boys and three girls. Two girls and two boys had purple ears. Draw the family pedigree and indicate what form of inheritance that the purple-ear trait most likely follows. What are the genotypes of his parents?

4. 4.4 Genetic Engineering and Biotechnology Assessment Statements Outline the use of the polymerase chain reaction (PCR) to copy and amplify minute quantities of DNA State that, in gel electrophoresis of DNA, fragments of DNA move in an electric field and are separated according to their sizes. State that gel electrophoresis of DNA is used in DNA profiling. Describe the application of DNA profiling to determine paternity and also forensic investigation. Outline 3 outcomes of the sequencing of the complete human genome. State that, when genes are transferred between species, the amino acid sequence of the polypeptides translated from them is unchanged because the genetic code is universal. Outline a basic technique used for gene transfer involving plasmids, a host cell (bacterium, yeast or other cells), restriction enzymes and DNA ligase.

5. Assessment Statements continued….. State two examples of the current uses of genetically modified crops or animals. Discuss the potential benefits and possible harmful effects of one example of genetic modification. Define clone Outline a technique for cloning using differentiated animal cells. Discuss the ethical issues of therapeutic cloning in humans.

6. Answer the following What is biotechnology? How has biotechnology and genetic engineering helped society? Give examples What ethical issues are raised with these advancements? What is DNA profiling? What can be found at a crime scene that can be used to get DNA? What is polymerase chain reaction (PCR)? What is gel electrophoresis? Describe the technique. What are restriction enzymes? What is the human genome project? When did it start? Completed?

7. Biotechnology Genetic engineering and biotechnology have opened new opportunities in forensic science, agriculture, medicine and food technology.

8. As knowledge has grown, science has enabled us to manipulate the unique genetic identity of organisms. Gene transfer, cloning and stem cell research have raised questions and the safety and ethics of techniques that are new to this generation.

9. DNA Profiling At crime scenes, forensic scientists check for fingerprints because fingerprints are unique can be used to identify someone. Forensic scientists also collect samples of hair, skin, blood and other body fluids that contain a person’s DNA.

10. Fingerprint Types

11. DNA Profiling Matching the DNA from a sample to a known individual is called DNA profiling. Along with forensic science DNA profiling can be used to determine paternity.

12. Biotechnology

14. Enzyme-linked immunosorbent assay (ELISA) (No need to know) The ELISA has been used as a diagnostic tool in medicine as well as a quality-controlcheck in various industries. In simple terms, in ELISA, an unknown amount of antigen is affixed to a surface, and then a specific antibody is applied over the surface so that it can bind to the antigen. This antibody is linked to an enzyme, and, in the final step, a substance containing the enzyme's substrateis added. The subsequent reaction produces a detectable signal, most commonly a color change in the substrate.

16. LAL (No need to know) Limulus amebocytelysate (LAL) is an aqueous extract of blood cells (amoebocytes) from the horseshoe crab. An extract of the horseshoe crab's blood is used by the pharmaceutical and medical device industries to ensure that their products, intravenous drugs, vaccines, and medical devices, are free of bacterial contamination. No other test works as easily or reliably for this purpose.

17. Gel Electrophoresis Gel electrophoresis is a method used to separate fragments of DNA on the basis of size and the electrical charge they carry. It can indentify natural variations found in every individual’s DNA.

18. Any DNA sample usually contains long molecules that are too large to be used for profiling. Enzymes, called restriction enzymes are used to cut DNA into fragments at very precise points in the base sequences. Since each person has a unique DNA sequence, the position of these cutting sites will vary, resulting in different fragment sizes.

19. The DNA fragments are placed in a well in a plate of a gel and an electrical field is applied. Each DNA fragment has a small negative charge so will move in the electrical field, through the gel. The distance a fragment can move depends on its size: smaller fragments move more easily through the gel matrix and travel further, while larger fragments are left behind close to their well. After fragments have separated in the gel, they are stained and produce a unique pattern of bands called a DNA profile.

20. Mr. Conte Mr. Brown

21. Run a gel yourself!! http://learn.genetics.utah.edu/content/labs/gel/ http://www.youtube.com/watch?v=IWZN_G_pC8U

22. Polymerase Chain Reaction (PCR) DNA profiles can only be done if there is sufficient DNA to complete the procedure. Sometimes at a crime scene or when a body is found after a long period of time, only a minute amount can be collected. PCR is a simple method that makes millions of copies of a tiny amount of DNA.

23. At high temperatures a special type of DNA polymerase enzyme is used to build up two new complete copies of the DNA. By cycling through lowering and raising temperatures it amplifies the process creating many strands of DNA. http://www.youtube.com/watch?v=HMC7c2T8fVk&feature=related

24. Thoughts to Consider DNA profiles do not show individual base sequences but only identify repeated sequences. How much confidence should be placed on DNA evidence? What are the implications for society if the authorities were to hold a DNA profile for every person? What safeguards should be in place to protect the rights of individuals whose DNA profiles have been placed on a database but have not been convicted of a crime? Is it right to convict a person on DNA evidence alone?

25. The Human Genome Project In 1990, the Human Genome Project was started as an international collaboration to determine the entire base sequence of the human genome. The sequencing of three billion base pairs was completed in 2003.

26. Work continues on locating genes and mapping specific positions on chromosomes. Identifying and studying the proteins produced by these genes may soon give a better understanding of genetic disorders. Since 2003, other genome-sequencing projects have been undertaken to gather data on populations from different parts of the world and analyze genetic variation.

27. Just knowing the base sequence of a chromosome does not have much scientific value, however, knowing the sequence of the genes on that chromosome is a great value to molecular medicine, forensic science and studying evolution.

28. Medical Benefits Improved diagnosis of diseases- finding faulty genes allows for early diagnosis and earlier or preventative treatment Earlier detection of genetic susceptibility to a disease Better identification of carriers of genetic conditions Gene therapy, which aims to repair or replace a faulty gene Drug design to find new classes of drugs that act on specific genes Pharmacogenomics, where the drug is tailored specifically to an individual

29. Gene Technology Gene technology, also known as genetic modification (GM) or genetic engineering, involves the transfer of genes from one species to another in order to produce new varieties of organisms with useful or desirable characteristics.

30. Selective plant and animal breeding has been carried out by humans for thousands of years as people tried to develop cattle that produced more milk or crops with better resistance to diseases. Animals or plants of the same species were chosen for breeding because of a certain trait. Over many generations of selection, the desired trait increase in frequency in the population.

31. Gene technology gives us the ability to transfer genes from one species to another completely different species in just one generation.

32. Bacterial genes have been transferred to plants, human genes to bacteria (insulin) and spider genes transferred to a goat. http://www.youtube.com/watch?v=ktgACq4zcAU

33. Glow in the dark monkeys and cats! Could help with AIDS http://www.youtube.com/watch?v=xuWvg7Il9VY

34. Gene transfer is possible because the genetic code is universal. No matter what the species, the genetic code spells out the same information and produces an amino acid sequence that is exactly the same in any species.

35. Technique of Gene Transfer Insulin was the first gene transfer that was used for medical purposes. Before diabetics used insulin from cow or pig pancreases. Today diabetics inject themselves with human insulin that has been made by modified E. coli. 3 Key Steps: Obtaining the desired human insulin gene in the form of a piece of DNA Attaching this DNA to a vector, which will carry it into the host cell (E.coli) the vector used is the plasmid found inside the bacterium. Culturing E.coli bacteria so that they translate the DNA and make insulin.

36. Plasmids from bacteria are cut with restriction enzymes (scissors) to produce sticky ends. Cells from the human pancreas are extracted, the mRNA code for the human insulin gene are isolated, DNA polymerase builds the DNA and it’s cut with the same restriction enzymes. The insulin DNA and the plasmid DNA are mixed together, with a ligase enzyme. The sticky ends are joined by the ligase (like glue). The recombinant plasmid with the insulin gene is introduced into bacteria. The gene is cloned by growing the bacteria. http://www.youtube.com/watch?v=AEINuCL-5wc

37. Genetically Modified Organisms (GMOs) There are over 100 plant species that have been genetically modified. Most genetic engineering has involved commercial crops such as corn, potatoes, tomatoes and cotton. Plants have been modified to make them resistant to pests, disease and tolerant to herbicides.

38. Salmon have been modified to grow larger and mature faster

39. Herbicide Tolerance Herbicides are used to kill weeds in crop fields but they are expensive and can affect local ecosystems as well as cultivated areas. One very common and powerful herbicide is glyphosate, which is broken down by soil bacteria. Farmers used to have to spray this herbicide several times a year, but now the gene has been transferred into corn making them resistent to the herbicide.

40. Farmers can plant the modified corn seeds, which grow along with the competing weeds. Spraying once with glyphosate kills the weeds and leaves the corn unaffected. The corn then grows and out-competes any weeds that grow later. Crop yields are improved and less herbicide has to be used.

41. If you could save lives by producing vaccines in transgenic bananas, would you? Debate about GMOs Impact on other species/ biodiversity Economics Philosophy/ Religious concerns Population increases, climate change

42. Benefits of GMO’s As our population increases and more people need feeding, modifying plants and animals to increase yield or to be able to grow plants in places where they previously could not, will provide more food. Plants can be made more tolerant to drought or salt water so that food can be grown in difficult areas. Crop plants that are disease resistant not only increases yields but also reduce the need for applying potentially harmful pesticides. Many substances, such as human growth hormone, a blood-clotting factor, antibodies, and vitamins, are already being made by GMO’s to improve human health.

43. Harm from GMO’s Animals could be harmed by having genes inserted in them. There is concern that people consuming genetically modified plants and animals could be harmed. The long term effects of genetically modified crops in the environment are unknown. Plants or animals could escape into the environment and their genes might become incorporated into wild populations, with unknown effects. Human food crops could become controlled by a small number of biotech companies. GM seeds/plants may be more expensive, preventing poorer farmers from buying them. Wealth might become concentrated in smaller percentage of the population, which may damage the local economy. More GMO’s may lead to a reduction in natural biodiversity.

44. Reducing Pollution Pigs fed on grains and soybeans produce a lot of phosphate in their manure. Phosphate causes pollution and algal blooms in the environment. Genetically modified pigs have developed with a gene from E. coli. The bacteria make an enzyme which releases the digestible phosphorus found in grains and soybeans. Genetically modified pigs produce the enzyme in their saliva and digest the food better. More phosphorus become available to them, so the pigs absorb the nutrients so they grow better and much less phosphate is released in the manure.

45. Clone- a group of genetically identical organisms or group of cells derived from a single parent. Cloning happens naturally- identical twins or triplets are clones. Cloning is also widespread in agriculture and horticulture, and has been used for many years to propagate new plants from cutting, taken from roots, stems or leaves.

46. Animal clones can be produced after in vitro (in a lab environment) fertilization. The ball of cells formed as the zygote begins to divide can be separated into several parts in a petri dish and each part can go on to form a genetically identical embryo. Cells from a newly fertilized eggs are not differentiated and have not specialized into the different cells they will become.

47. The first successful clone made from an adult animal was Dolly the sheep in 1997 in Edinburgh, Scotland. Dolly was created from fusing the ovum with the mammary cell of an adult sheep. Interactive Cloning http://learn.genetics.utah.edu/content/tech/cloning/clickandclone/

48. Therapeutic Cloning Therapeutic cloning is used to produce tissue or even organs that may be needed by human patients. Human embryos are used as a source of embryonic stem cells, which are undifferentiated and can become any type of human cell. The value of the stem cells is that they could be used to repair damaged parts of the body, such as liver or kidney, or brain because they will gorw to become those tissues.

49. There are many ethical issues that arise when human cloning is considered and stem cell research has been banned in some countries. Currently, embryos are not specially created for the purpose of therapeutic cloning. Embryos that are used come from the in vitro fertilization (IVF) process and are surplus embryos that were not implanted into the mother.

50. Ethic and Therapeutic Cloning There are 2 types of cloning- reproductive and therapeutic. Reproductive cloning involves an embryo that has been created and implanted into the surrogate mother, where it will develop into a new organism. In therapeutic cloning process, no sperm fertilization is needed nor is it necessary to implant an embryo into the uterus to create a child.